Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum.

Ejerskov, Cecilie; Gaustadnes, Mette; Ostergaard, John R; Krogh, Klaus; Thorsen, Kasper; Borglum, Anders D; Haagerup, Annette

Ejerskov, Cecilie; Gaustadnes, Mette; Ostergaard, John R; Krogh, Klaus; Thorsen, Kasper; Borglum, Anders D; Haagerup, Annette.

Afiliação

Ejerskov C; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark. cecilie@ejerskov.dk.
Gaustadnes M; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. cecilie@ejerskov.dk.
Ostergaard JR; NIDO|Denmark, Research in Education and Health, Regional Hospital West Jutland, Gl. Landevej 61, 7400, Herning, Denmark. cecilie@ejerskov.dk.
Krogh K; Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgårdsvej 21 A, 8200, Aarhus N, Denmark.
Thorsen K; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Borglum AD; Department of Hepatology and Gastroenterology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8000, Aarhus N, Denmark.
Haagerup A; Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgårdsvej 21 A, 8200, Aarhus N, Denmark.

Sci Rep ; 11(1): 9179, 2021 04 28.

Article em En | MEDLINE | ID: mdl-33911094

Assuntos

Constipação Intestinal/etiologia; Mutação; Neurofibromatose 1/etiologia; Neurofibromina 1/genética; Adolescente; Estudos de Casos e Controles; Criança; Pré-Escolar; Constipação Intestinal/genética; Feminino; Humanos; Masculino; Neurofibromatose 1/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Constipação Intestinal / Neurofibromina 1 / Mutação Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Dinamarca

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